-
Nuclear Medicine and Molecular Imaging May 2024Craniopharyngioma is uncommon benign intracranial tumour that can be cured by surgical resection followed by conventional radiotherapy. However, its anatomical...
Craniopharyngioma is uncommon benign intracranial tumour that can be cured by surgical resection followed by conventional radiotherapy. However, its anatomical localisation makes the treatment hazardous or impossible. This case report aims to discuss the first local experience of using beta-emitting Yttrium-90 radioisotope in treating a patient with refractory cystic craniopharyngioma. A 43-year-old male who has underlying refractory cystic craniopharyngioma complicated with visual impairment and panhypopituitarism was referred to our nuclear medicine department for intra-cavitary irradiation therapy. Initially, he was presented with blurring of vision and headache which he had two previous resection surgeries of cystic craniopharyngioma. However, due to persistent symptoms, he had Ommaya reservoir shunt inserted for regular aspiration. Despite regular aspiration, his symptoms worsen. He was unsuitable for radiotherapy thus was considered for intra-cystic irradiation with radioisotope. Prior to the therapy, he had pre-therapy assessment with Tc-99 m MAA. He subsequently received Ytrrium-90 citrate colloid of 300 Gy radiation dose to the inner surface of the tumour which complicated with post therapy inflammatory reaction. This first local experience highlights the role of radioisotope as the valuable minimally invasive adjuvant therapy in treating a patient with refractory cystic craniopharyngioma. Further follow-up is necessary to assess the outcome and possible late complications.
PubMed: 38633287
DOI: 10.1007/s13139-024-00838-5 -
Cureus Feb 2024Pulmonary arterial hypertension (PAH) is a progressive disease with multiple contributing factors. Genetics, epigenetics, hormonal, and immune factors all contribute to...
Pulmonary arterial hypertension (PAH) is a progressive disease with multiple contributing factors. Genetics, epigenetics, hormonal, and immune factors all contribute to the development and progression of the disease. A number of endocrine disorders and metabolic syndromes are being studied for their potential role in the development of PAH. We report to you a case of a 32-year-old female with a rare presentation of a non-BMPR2 mutation heritable PAH complicated with empty sella syndrome and panhypopituitarism.
PubMed: 38524058
DOI: 10.7759/cureus.54632 -
World Neurosurgery Jun 2024Traditional microsurgical approaches for addressing intraventricular craniopharyngioma provide limited access to the retrochiasmatic area and tumors with significant...
Fully Endoscopic Minimally Invasive Trans-Eyebrow Supraorbital Translaminar Approach to Third Ventricle Craniopharyngiomas: Technical Nuances and Stepwise Illustrative Description.
BACKGROUND
Traditional microsurgical approaches for addressing intraventricular craniopharyngioma provide limited access to the retrochiasmatic area and tumors with significant lateral or rostrocaudal extensions. Extended endoscopic endonasal approaches can effectively overcome many of limitations, yet they require a favorable working angle between the optic chiasm and pituitary gland, as well as the involvement of the third ventricle floor by the tumor.
METHODS
Herein, the authors describe the surgical nuances of a keyhole technique for resecting third ventricle craniopharyngiomas via a fully endoscopic minimally invasive trans-eyebrow supraorbital translaminar approach (ESOTLA). A case description detailing the key surgical steps and application of the approach is provided, along with a series of cadaveric photographs to highlight the relevant anatomy and step-by-step dissection process.
RESULTS
The patient is a 44-year-old man who presented with polyuria, low urine specific gravity, and panhypopituitarism. Brain magnetic resonance imaging revealed a solid-cystic heterogeneous-enhanced retrochiasmatic mass within the third ventricle, consistent with craniopharyngioma. A 1-stage ESOTLA was indicated based on the narrow pituitary-chiasm angle and the high functional status of the patient. Near-total resection was achieved, and no new postoperative neurologic or endocrine change was observed. Targeted therapy was implemented based on the histologic result, and the most recent surveillance magnetic resonance imaging showed no evidence of the residual tumor.
CONCLUSIONS
By combining a keyhole approach with variable-angle endoscopic visualization through a smaller bony and soft tissue exposure, ESOTLA can provide enhanced illumination within the third ventricle, potentially addressing cosmetic concerns and limited exposure area/angle of freedom associated with its conventional microsurgical counterpart.
Topics: Humans; Craniopharyngioma; Male; Third Ventricle; Pituitary Neoplasms; Neuroendoscopy; Adult; Cerebral Ventricle Neoplasms; Eyebrows; Minimally Invasive Surgical Procedures; Neurosurgical Procedures; Magnetic Resonance Imaging
PubMed: 38522791
DOI: 10.1016/j.wneu.2024.03.095 -
American Journal of Medical Genetics.... Jul 2024Orthodenticle homeobox 2 (OTX2) is a known oncogenic driver of medulloblastoma. Germline duplication of 14q22.3 including OTX2 is a rare condition reported in patients... (Review)
Review
Orthodenticle homeobox 2 (OTX2) is a known oncogenic driver of medulloblastoma. Germline duplication of 14q22.3 including OTX2 is a rare condition reported in patients with combined pituitary hormone deficiency, oculo-auriculo-vertebral spectrum, and hemifacial microsomia. There has been one previously published case of a patient carrying a 14q22.3 duplication that included OTX2 with hemifacial microsomia who also developed medulloblastoma. Here, we present a case of a 6-year-old girl with a history of delayed development who was diagnosed with medulloblastoma. Genetic evaluations revealed that she inherited a germline duplication of 14q22.3, which included OTX2. This genetic alteration was passed down from her mother, who also had a history of delayed development. Results from other genetic testing, including exome sequencing, fragile X syndrome, and mtDNA testing, were negative/normal. This is the second report of a 14q22.3 duplication that included OTX2 in a patient with medulloblastoma. Further studies are necessary to establish a clear association.
Topics: Humans; Otx Transcription Factors; Female; Medulloblastoma; Child; Chromosomes, Human, Pair 14; Cerebellar Neoplasms; Chromosome Duplication
PubMed: 38511879
DOI: 10.1002/ajmg.a.63604 -
Hormones (Athens, Greece) Mar 2024
Correction: Comparison of clinical characteristics of a pediatric cohort with combined pituitary hormone deficiency caused by mutation of the PROP1 gene or of other origins.
PubMed: 38498234
DOI: 10.1007/s42000-024-00543-0 -
Endokrynologia Polska 2024Not required for Clinical Vignette.
Not required for Clinical Vignette.
Topics: Female; Humans; Adolescent; Pituitary Diseases; Autoimmune Hypophysitis; Hypopituitarism; Steroids; Magnetic Resonance Imaging
PubMed: 38497397
DOI: 10.5603/ep.96770 -
Internal Medicine (Tokyo, Japan) Mar 2024A 59-year-old man was admitted to our hospital with hyponatremia. An endocrine examination indicated panhypopituitarism, and magnetic resonance imaging revealed a...
A 59-year-old man was admitted to our hospital with hyponatremia. An endocrine examination indicated panhypopituitarism, and magnetic resonance imaging revealed a mass-like lesion in the pituitary gland. Sinus endoscopy revealed a fungal mass in the sphenoid sinus, and the patient was diagnosed with hypopituitarism due to aspergillosis of the central nervous system (CNS). The patient's hyponatremia resolved with hydrocortisone replacement. Although the right internal carotid artery was eventually occluded, antifungal medications were administered for the aspergillosis, and the patient's general condition improved. The patient's CNS lesions have remained under control since discharge. This is the first case to suggest that ACTH secretion may be relatively preserved in Aspergillus-induced hypopituitarism.
PubMed: 38462513
DOI: 10.2169/internalmedicine.3390-23 -
Endocrine Journal May 2024Central congenital hypothyroidism (CH) can occur as an isolated deficiency or as part of combined pituitary hormone deficiency. Unlike primary CH, central CH cannot be...
Central congenital hypothyroidism (CH) can occur as an isolated deficiency or as part of combined pituitary hormone deficiency. Unlike primary CH, central CH cannot be detected by newborn screening (NBS) using dry filter paper blood TSH levels, and early diagnosis remains challenging. In this study, the clinical and genetic backgrounds of patients with isolated central CH were determined through a questionnaire-based survey among members of the Japanese Society for Pediatric Endocrinology. The known causes of isolated central CH were studied in 14 patients, including six with previously reported patient data. The results revealed IGSF1 and TBL1X pathogenic variants in nine and one patient, respectively. All six patients with low free thyroxine (FT4) levels detected in NBS carried IGSF1 pathogenic variants. Five patients with isolated central CH diagnosed after 3 months of age were variant-negative, except for one female patient with a heterozygous IGSF1 variant. Two of the four variant-negative patients and a variant-positive patient were diagnosed with pituitary hypoplasia. One and two patients with IGSF1 variant had obesity and intellectual disability, respectively. Left amblyopia was identified in the patient with a TBL1X variant. The study revalidated that IGSF1 variants comprise the most frequent pathogenic variant in patients with isolated central CH in Japan. The neonatal period is the optimal time for the diagnosis of central CH, particularly IGSF1 abnormalities, and the introduction of T4 screening should be considered in the future, taking cost-effectiveness into consideration.
Topics: Humans; Congenital Hypothyroidism; Female; Japan; Male; Infant, Newborn; Neonatal Screening; Infant; Membrane Proteins; Child, Preschool; Child; Immunoglobulins; Mutation; Transducin
PubMed: 38462462
DOI: 10.1507/endocrj.EJ23-0391 -
Journal of Pediatric Endocrinology &... May 2024The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95 % of cases. The roundabout receptor-1 gene () plays critical roles in axonal...
OBJECTIVES
The genetic causes of pituitary stalk interruption syndrome (PSIS) remain elusive in 95 % of cases. The roundabout receptor-1 gene () plays critical roles in axonal guidance and cell migration. Recently, mutations in the gene have been reported patients with PSIS.
CASE PRESENTATION
We report a 2.9-year-old boy with PSIS who presented with combined pituitary hormone deficiency, central diabetes insipidus, and the classical triad of MRI findings. Through clinical exome sequencing using next-generation sequencing techniques, a previously unidentified novel heterozygous frame shift mutation in the gene was identified. This is the first report of mutation associated with posterior pituitary dysfunction.
CONCLUSIONS
We conclude and emphasize that should be investigated in patients with PSIS. Our case is unique in the published literature in that we are first time reporting posterior pituitary dysfunction as manifestation of mutation. The full clinical spectrum of the mutations may not be fully known.
Topics: Humans; Roundabout Proteins; Male; Receptors, Immunologic; Nerve Tissue Proteins; Hypopituitarism; Child, Preschool; Mutation; Diabetes Insipidus, Neurogenic; Pituitary Gland; Prognosis
PubMed: 38444307
DOI: 10.1515/jpem-2023-0541 -
Frontiers in Pediatrics 2024We encountered a pediatric case of pulmonary hypertension triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. A 14-year-old girl was...
We encountered a pediatric case of pulmonary hypertension triggered by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) infection. A 14-year-old girl was brought to the emergency department of our hospital with fever, respiratory distress, and impaired consciousness. She tested positive for SARS-CoV-2 upon a polymerase chain reaction examination and had prolonged hypoxemia without pneumonia. An echocardiography revealed elevated right ventricular pressure. She was diagnosed with pilocytic astrocytoma at the age of 10 years and underwent a resection of a pituitary tumor. Hormone replacement therapy was administered postoperatively, but her growth hormones were not activated because of concerns about tumor recurrence. Echocardiography at the age of 13 years showed normal right ventricular pressure. On admission, she had an abnormal liver function, elevated liver fibrosis markers, a decreased platelet count, and hepatosplenomegaly, suggesting pulmonary and portal hypertension. The diagnosis was pulmonary hypertension associated with SARS-CoV-2 infection. The mechanism of the pulmonary hypertension was thought to be portal hypertension owing to growth hormone deficiency and SARS-CoV-2 infection. The patient's symptoms improved with oxygenation and bed rest without additional targeted pulmonary hypertension therapy, and her right ventricular pressure decreased. This case demonstrates that a pediatric patient with subclinical pulmonary hypertension may develop pulmonary hypertension triggered by SARS-CoV-2 infection.
PubMed: 38390278
DOI: 10.3389/fped.2024.1336589